Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC1
Variant:p.R321Q
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IQSEC1

NM_001134382.3:p.R321Q

Associated Papers

Novel Biallelic Variants in IQSEC1 in a Patient With Intellectual Developmental Disorder With Short Stature and Behavioral Abnormalities (IDDSSBA) and Corpus Callosum Dysgenesis.

Kashevarova AA et al.

American Journal of Medical Genetics. Part A, 2026

Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.

Ansar M et al.

American Journal of Human Genetics, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."